ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1111G>A (p.Gly371Arg)

dbSNP: rs1591266329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876951 SCV002127902 uncertain significance Inflammatory bowel disease 28 2022-03-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 371 of the IL10RA protein (p.Gly371Arg).
Ambry Genetics RCV004988829 SCV005600853 uncertain significance Inborn genetic diseases 2024-08-10 criteria provided, single submitter clinical testing The c.1111G>A (p.G371R) alteration is located in exon 7 (coding exon 7) of the IL10RA gene. This alteration results from a G to A substitution at nucleotide position 1111, causing the glycine (G) at amino acid position 371 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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